Fig. 1: Schematic representation of the characteristics of the cohorts analyzed in this study, prevalence of (likely) pathogenic variants in cancer-predisposing genes, and results of the current study for exonuclease domain (ED) missense variants in POLE and POLD1. | Genetics in Medicine

Fig. 1: Schematic representation of the characteristics of the cohorts analyzed in this study, prevalence of (likely) pathogenic variants in cancer-predisposing genes, and results of the current study for exonuclease domain (ED) missense variants in POLE and POLD1.

From: Role of POLE and POLD1 in familial cancer

Fig. 1

BC breast cancer, BrC brain tumor, CRC colorectal cancer, EC endometrial cancer, GC gastric cancer, HBC hereditary breast cancer, HBOC hereditary breast and ovarian cancer, HOC hereditary ovarian cancer, HNPCC hereditary nonpolyposis colorectal cancer, LF Li–Fraumeni syndrome, LP likely pathogenic, OC ovarian cancer, PPAP polymerase proofreading–associated polyposis, VUS variant of unknown significance.

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